Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality

European Journal of Medical Genetics

Volumn 49, Issue 4, 2006, Pages 323-330

  El Harith, El Harith A ^a   Kühnau, Wolfgang ^a   Schmidtke, Jörg ^a   Gadzicki, Dorothea ^a   Ahmed, Mirghani ^b   Krawczak, Michael ^c   Stuhrmann, Manfred ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

ACVRL1 gene; Epistaxis; Hereditary hemorrhagic telangiectasia; Saudi Arabia

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; PROTEIN; UNCLASSIFIED DRUG;

ARAB; ARTICLE; CONTROLLED STUDY; EPISTAXIS; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LETHALITY; MAJOR CLINICAL STUDY; NEWBORN DEATH; NONSENSE MUTATION; PHENOTYPE; PREGNANCY; RENDU OSLER WEBER DISEASE; SAUDI ARABIA; SEQUENCE ANALYSIS; SPONTANEOUS ABORTION;

ACTIVIN RECEPTORS, TYPE II; CODON, NONSENSE; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; SAUDI ARABIA; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 33745600568     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.09.002     Document Type: Article

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